Actionable, pathogenic incidental findings in 1,000 participants' exomes.

ABSTRACT: The incorporation of genomics into medicine is stimulating interest on the return of incidental findings (IFs) from exome and genome sequencing. However, no large-scale study has yet estimated the number of expected actionable findings per individual; therefore, we classified actionable pathogenic single-nucleotide variants in 500 European- and 500 African-descent participants randomly selected from the National Heart, Lung, and Blood Institute Exome Sequencing Project. The 1,000 individuals were screened for variants in 114 genes selected by an expert panel for their association with medically actionable genetic conditions possibly undiagnosed in adults. Among the 1,000 participants, 585 instances of 239 unique variants were identified as disease causing in the Human Gene Mutation Databas

SUBMITTER: Dorschner MO 

PROVIDER: S-EPMC3791261 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature